Propionic Acidemia is a type of organic acid disorder found in about 1 in every 100,000 babies in the United States. It is inherited from the baby's parents. PA causes problems breaking down and using certain amino acids from food. It can be life threatening if not promptly treated, but effects can last throughout a person's life.
Molecular Basis
PA occurs when an enzyme called “propionyl CoA carboxylase” is either missing or not working properly. This enzyme’s job is to change certain amino acids so the body can use them. Individuals with PA cannot perform this conversion because the enzyme propionyl CoA carboxylase is nonfunctional. When this enzyme is not working, substances called glycine and propionic acid along with other harmful substances, build up in the blood and cause problems.
Symptoms
Propionic acidemia is characterized almost immediately in newborns. Symptoms include poor feeding, vomiting, dehydration, acidosis, low muscle tone, seizures, and lethargy[1] . The effects of propionic acidemia quickly become life-threatening. PA can damage the brain, heart, and liver, cause seizures, and delays to normal development like walking and talking.
Treatment
Prompt treatment is needed to prevent intellectual disabilities and serious medical problems. Most children need to be on a low-protein diet and drink a special medical formula. Even with treatment, some children have life-long learning problems or intellectual disabilities. Children with PA often have more infections than usual. These need to be treated immediately to avoid a metabolic crisis.
Table of Contents
What is Propionic Acidemia?
Propionic Acidemia is a type of organic acid disorder found in about 1 in every 100,000 babies in the United States. It is inherited from the baby's parents. PA causes problems breaking down and using certain amino acids from food. It can be life threatening if not promptly treated, but effects can last throughout a person's life.Molecular Basis
PA occurs when an enzyme called “propionyl CoA carboxylase” is either missing or not working properly. This enzyme’s job is to change certain amino acids so the body can use them. Individuals with PA cannot perform this conversion because the enzyme propionyl CoA carboxylase is nonfunctional. When this enzyme is not working, substances called glycine and propionic acid along with other harmful substances, build up in the blood and cause problems.Symptoms
Propionic acidemia is characterized almost immediately in newborns. Symptoms include poor feeding, vomiting, dehydration, acidosis, low muscle tone, seizures, and lethargy[1] . The effects of propionic acidemia quickly become life-threatening. PA can damage the brain, heart, and liver, cause seizures, and delays to normal development like walking and talking.Treatment
Prompt treatment is needed to prevent intellectual disabilities and serious medical problems. Most children need to be on a low-protein diet and drink a special medical formula. Even with treatment, some children have life-long learning problems or intellectual disabilities. Children with PA often have more infections than usual. These need to be treated immediately to avoid a metabolic crisis.Works Cited
http://www.newbornscreening.info/Parents/organicaciddisorders/PA.html
https://en.wikipedia.org/wiki/Propionic_acidemia
lethargy: a pathological state of sleepiness or deep unresponsiveness and inactivity.